Collagen Type I alpha1 (COL1A1) Gene Polymorphism and Bone Mineral Density in Postmenopausal Kazakh Women

Introduction: Single nucleotide polymorphism (SNP) at the collagen type I alpha 1 gene (COL1A1) rs1800012 has been widely studied and has shown an association with bone mineral density (BMD) and fractures. A minor allele TT of this SNP was found to be greatly overrepresented in individuals with fractures compared to controls, thus becoming a good predictor of increased fracture risk. The aim of this investigation was to evaluate potential association between COL1A1 gene polymorphism and osteoporosis in Kazakh postmenopausal women.Methods: The study population included 103 postmenopausal women recruited from Pavlodar and Almaty clinics. BMD was measured using DEXA. Genomic DNA was extracted from peripheral venous blood of study participants with Wizard® Genomic DNA Purification Kit (Promega, USA). Detection of COL1A1 +1245G/T (Sp1) polymorphism was done by the TaqMan® SNP Genotyping Assay of real-time PCR.Results: Densitometry results revealed 36 osteoporotic, 42 osteopenic, and 25 normal postmenopausal women. Data analysis of 1245G>T polymorphism in COL1A1 gene in the group of women with osteopenia and osteoporosis revealed deviation from Hardy-Weinberg equilibrium. The mutant TT genotype was prevalent compared to the heterozygous genotype GT in both groups. Distributions were 83% GG, 3% GT, and 14% TT in the group with osteopenia and 80% GG, 6% GT, and 14% TT in the group with osteoporosis. The distribution of genotypes frequency in the group of normal postmenopausal women was 76% GG, 16% GT, and 8% TT.Conclusion: These results suggest that TT genotype of COL1A1 +1245G/T (Sp1) polymorphism is associated with risk of postmenopausal osteoporosis in Kazakh women. Further studies involving a larger number of women are needed to clarify the relationship of this polymorphism with risk of osteoporosis.

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Genetic polymorphisms of collagen type I α1 chain (COL1A1) gene increase the frequency of low bone mineral density in the subgroup of children with juvenile idiopathic arthritis

The EPMA Journal ◽

10.1186/1878-5085-4-15 ◽

2013 ◽

Vol 4 (1) ◽

Cited By ~ 10

Author(s):

Mikhail M Kostik ◽

Arseniy M Smirnov ◽

Grigory S Demin ◽

Marina M Mnuskina ◽

Larisa A Scheplyagina ◽

...

Keyword(s):

Bone Mineral Density ◽

Juvenile Idiopathic Arthritis ◽

Genetic Polymorphisms ◽

Bone Mineral ◽

Collagen Type ◽

Collagen Type I ◽

Type I ◽

Mineral Density ◽

Col1a1 Gene ◽

Low Bone Mineral Density

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Association of Collagen Type I α1 Gene Polymorphism with Bone Mineral Density in Osteoporotic Women in Serbia

Journal of Women s Health ◽

10.1089/jwh.2009.1698 ◽

2010 ◽

Vol 19 (7) ◽

pp. 1299-1303 ◽

Cited By ~ 3

Author(s):

Katarina Trajkovic ◽

Milka Perovic ◽

Aleksej Tarasjev ◽

Nada Pilipovic ◽

Vera Popovic ◽

...

Keyword(s):

Bone Mineral Density ◽

Gene Polymorphism ◽

Bone Mineral ◽

Collagen Type ◽

Collagen Type I ◽

Type I ◽

Mineral Density

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Polymorphism at the Sp 1 Binding Site in the Collagen Type I α 1 Gene Does Not Predict Bone Mineral Density in Postmenopausal Women in Sweden

Calcified Tissue International ◽

10.1007/s002239900529 ◽

1998 ◽

Vol 63 (4) ◽

pp. 293-295 ◽

Cited By ~ 36

Author(s):

M. Lidén ◽

B. Wilén ◽

S. Ljunghall ◽

H. Melhus

Keyword(s):

Bone Mineral Density ◽

Binding Site ◽

Postmenopausal Women ◽

Bone Mineral ◽

Collagen Type ◽

Collagen Type I ◽

Type I ◽

Mineral Density

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Bone mineral density in young women of the city of São Paulo, Brazil: correlation with both collagen type I alpha 1 gene polymorphism and clinical aspects

Brazilian Journal of Medical and Biological Research ◽

10.1590/s0100-879x2002000800005 ◽

2002 ◽

Vol 35 (8) ◽

pp. 885-893 ◽

Cited By ~ 13

Author(s):

E.R. Barros ◽

T.S. Kasamatsu ◽

A.C. Ramalho ◽

O.M. Hauache ◽

J.G.H. Vieira ◽

...

Keyword(s):

Bone Mineral Density ◽

Gene Polymorphism ◽

Bone Mineral ◽

Young Women ◽

Collagen Type ◽

Collagen Type I ◽

Clinical Aspects ◽

Type I ◽

Mineral Density ◽

The City

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Association of estrogen receptor alpha and collagen type I alpha 1 gene polymorphisms with bone mineral density in postmenopausal women

Osteoporosis International ◽

10.1007/s00198-010-1312-4 ◽

2010 ◽

Vol 22 (4) ◽

pp. 1219-1225 ◽

Cited By ~ 16

Author(s):

M. O. Erdogan ◽

H. Yıldız ◽

S. Artan ◽

M. Solak ◽

F. Taşcıoğlu ◽

...

Keyword(s):

Bone Mineral Density ◽

Estrogen Receptor ◽

Postmenopausal Women ◽

Bone Mineral ◽

Gene Polymorphisms ◽

Estrogen Receptor Alpha ◽

Collagen Type ◽

Collagen Type I ◽

Type I ◽

Mineral Density

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Collagen type I alpha 1 gene polymorphism in premature ovarian failure

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh1306344v ◽

2013 ◽

Vol 141 (5-6) ◽

pp. 344-348 ◽

Cited By ~ 1

Author(s):

Svetlana Vujovic ◽

Selma Kanazir ◽

Miomira Ivovic ◽

Milina Tancic-Gajic ◽

Milka Perovic ◽

...

Keyword(s):

Bone Mineral Density ◽

Gene Polymorphism ◽

Bone Mineral ◽

Premature Ovarian Failure ◽

Collagen Type ◽

Collagen Type I ◽

Ovarian Failure ◽

Type I ◽

Relative Distribution ◽

Mineral Density

Introduction. Premature ovarian failure (POF) is characterized by amenorrhea, hypergonadotropism and hypoestrogenism in women bellow 40 years. Osteoporosis is one of the late complications of POF. Objective. To correlate collagen type I alpha1 (COLIA1) gene polymorphism with bone mineral density (BMD) in women with POF. Methods. We determined the COLIA1 genotypes SS, Ss, ss in 66 women with POF. Single nucleotide polymorphism (G to T substitution) within the Sp 1-binding site in the first intron of the COLIA1 gene was assessed by polymerase chain reaction (PCR) followed by single-stranded conformation polymorphism (SSCP) analysis. Bone mineral density (BMD) was measured at the lumbar spine region by dual X-ray absorptiometry. Statistics: Kruskal-Wallis ANOVA, Chisquare test, Spearman correlation test. Results. The relative distribution of COLIA1 genotype alleles was SS - 54.4%, Ss - 41.0% and ss - 4.5%. No significant differences were found between genotype groups in body mass index, age, duration of amenorrhea or BMD. A significant positive correlation was observed between BMI and parity. Conclusion. The COLIA1 gene is just one of many genes influencing bone characteristics. It may act as a marker for differences in bone quantity and quality, bone fragility and accelerated bone loss in older women. However, in young women with POF, COLIA1 cannot identify those at higher risk for osteoporosis.

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Denosumab in transfusion-dependent thalassemia osteoporosis: a randomized, placebo-controlled, double-blind phase 2b clinical trial

Blood Advances ◽

10.1182/bloodadvances.2018023085 ◽

2018 ◽

Vol 2 (21) ◽

pp. 2837-2847 ◽

Cited By ~ 6

Author(s):

Ersi Voskaridou ◽

Ioannis Ntanasis-Stathopoulos ◽

Athanasios Papaefstathiou ◽

Dimitrios Christoulas ◽

Maria Dimopoulou ◽

...

Keyword(s):

Bone Mineral Density ◽

Bone Mineral ◽

Collagen Type ◽

Collagen Type I ◽

Tartrate Resistant Acid Phosphatase ◽

Type I ◽

Mineral Density ◽

Double Blind ◽

Bone Specific Alkaline Phosphatase ◽

Dickkopf 1

Abstract Denosumab (DNM) is a fully human monoclonal antibody against the receptor activator of nuclear factor kappa-B ligand (RANKL) that has been licensed for the treatment of different types of osteoporosis. However, the prospective data for the evaluation of DNM efficacy on transfusion-dependent thalassemia (TDT)–induced osteoporosis are rather limited. Thus, we conducted a randomized, placebo-controlled, double-blind, phase 2b clinical trial to evaluate DNM in TDT osteoporosis. Patients were assigned to receive either 60 mg DNM (n = 32) or placebo (n = 31) subcutaneously on day 0 and 180 during a total of 12 months of follow-up. The percentage increase of L1-L4 bone mineral density was higher in the DNM group than the placebo group (5.92% ± 5.25% vs 2.92% ± 5.56%, respectively; P = .043), whereas the advantage of DNM regarding wrist bone mineral density was much higher compared with placebo (−0.26% ± 5.31% vs −3.92% ± 8.71%, respectively; P = .035). No grade 3 or 4 toxicity was observed. DNM reduced pain scores that remained unaltered in the placebo group. DNM showed a significant reduction of soluble RANKL (sRANKL), sRANKL/osteoprotegerin ratio, C-telopeptide of collagen type I, tartrate-resistant acid phosphatase isoform-5b, and bone-specific alkaline phosphatase between baseline and the 12th month (P < .01 for all comparisons) without changes in dickkopf-1, sclerostin, and osteocalcin. On the contrary, placebo patients showed an increase in sRANKL, osteoprotegerin, dickkopf-1, sclerostin, C-telopeptide of collagen type I, tartrate-resistant acid phosphatase isoform-5b, and bone-specific alkaline phosphatase during the study period (P < .01 for all comparisons). In conclusion, DNM increased lumbar spine and wrist bone mineral density and reduced pain and bone remodeling markers, and thus it is another valuable option for the management of TDT-induced osteoporosis. This trial was registered at www.clinicaltrials.gov as #NCT02559648.

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